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The Fox-1 family of RNA-binding proteins is evolutionarily conserved, and regulates tissue-specific alternative splicing in metazoa. Fox-1 recognizes a (U)GCAUG stretch in regulated exons or in flanking introns. The protein binds to the C-terminus of ataxin-2 and may contribute to the restricted pathology of spinocerebellar ataxia type 2 (SCA2). Ataxin-2 is the product of the SCA2 gene which causes familial neurodegenerative diseases. Fox-1 and ataxin-2 are both localized in the trans-Golgi network. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
RBFOX1 (RNA Binding Fox-1 Homolog 1) is a Protein Coding gene. Diseases associated with RBFOX1 include Benign Epilepsy With Centrotemporal Spikes and Developmental Coordination Disorder. Among its related pathways are MECP2 and Associated Rett Syndrome. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and nucleotide binding. An important paralog of this gene is RBFOX3.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH16J006019 | Promoter | 0.9 | EPDnew Ensembl | 750 | +779.9 | 779919 | 1.4 | POLR2A EZH2 SIN3A CTCF | RBFOX1 ENSG00000280000 piR-56341-065 NONHSAG018484.2 | |
GH16J005239 | Promoter | 0.7 | Ensembl | 750.6 | +0.3 | 319 | 1.4 | CTCF REST ZNF143 LARP7 TRIM22 RNF2 IKZF1 SMARCA5 ZNF335 RB1 | RBFOX1 NONHSAG018484.2 piR-61945-170 | |
GH16J005979 | Enhancer | 0.3 | Ensembl | 11.4 | +740.6 | 740619 | 1.2 | TCF7L2 BCL6 | RBFOX1 piR-56341-065 ENSG00000280000 NONHSAG018484.2 | |
GH16J006231 | Enhancer | 0.2 | FANTOM5 | 12.3 | +991.9 | 991899 | 0.4 | RBFOX1 piR-31937-082 piR-50443-135 NONHSAG018484.2 | ||
GH16J006043 | Enhancer | 0.2 | Ensembl | 11.9 | +804.0 | 804019 | 1.2 | RBFOX1 ENSG00000280000 ENSG00000257180 NONHSAG018484.2 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003676 | nucleic acid binding | IEA | -- |
GO:0003723 | RNA binding | IEA,NAS | 10814712 |
GO:0003729 | mRNA binding | IBA | 21873635 |
GO:0005515 | protein binding | IPI | 16713569 |
GO:0008022 | protein C-terminus binding | IPI | 10814712 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA,IBA | 21873635 |
GO:0005737 | cytoplasm | IDA,IBA | 10814712 |
GO:0005802 | trans-Golgi network | IDA | 10814712 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | MECP2 and Associated Rett Syndrome |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000381 | regulation of alternative mRNA splicing, via spliceosome | IBA | 21873635 |
GO:0006397 | mRNA processing | IEA | -- |
GO:0007399 | nervous system development | IBA | 21873635 |
GO:0008380 | RNA splicing | IEA | -- |
GO:0043484 | regulation of RNA splicing | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
antineoplastic agents | Pharma | 0 |
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15a | · | 15b | · | 15c |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||||||||||||||||||
SP2: | - | - | |||||||||||||||||||||||||||||||||
SP3: | - | - | - | ||||||||||||||||||||||||||||||||
SP4: | - | - | |||||||||||||||||||||||||||||||||
SP5: | - | - | - | ||||||||||||||||||||||||||||||||
SP6: | |||||||||||||||||||||||||||||||||||
SP7: | - | - | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
dog (Canis familiaris) |
Mammalia | RBFOX1 33 32 |
|
OneToOne | |
mouse (Mus musculus) |
Mammalia | Rbfox1 17 33 32 |
|
||
rat (Rattus norvegicus) |
Mammalia | Rbfox1 32 |
|
||
chimpanzee (Pan troglodytes) |
Mammalia | RBFOX1 33 32 |
|
OneToOne | |
oppossum (Monodelphis domestica) |
Mammalia | RBFOX1 33 |
|
OneToOne | |
cow (Bos Taurus) |
Mammalia | RBFOX1 33 |
|
OneToOne | |
platypus (Ornithorhynchus anatinus) |
Mammalia | RBFOX1 33 |
|
OneToOne | |
chicken (Gallus gallus) |
Aves | RBFOX1 33 32 |
|
OneToOne | |
lizard (Anolis carolinensis) |
Reptilia | RBFOX1 33 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | rbfox1 32 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | rbfox1 33 32 |
|
OneToOne | |
Dr.11261 32 |
|
||||
fruit fly (Drosophila melanogaster) |
Insecta | A2bp1 33 |
|
OneToMany | |
worm (Caenorhabditis elegans) |
Secernentea | fox-1 33 |
|
ManyToMany | |
asd-1 33 |
|
ManyToMany | |||
spn-4 33 |
|
ManyToMany | |||
sea squirt (Ciona savignyi) |
Ascidiacea | CSA.3750 33 |
|
OneToMany | |
Cin.1728 32 |
|
||||
sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.1728 32 |
|
SNP ID | Clin | Chr 16 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1060504699 | likely-benign, Idiopathic generalized epilepsy | 7,653,810(+) | CG/TT | intron_variant | |
rs1060504700 | likely-benign, Idiopathic generalized epilepsy | 7,653,915(+) | G/A | coding_sequence_variant, synonymous_variant | |
rs112339093 | benign, Idiopathic generalized epilepsy | 7,653,811(+) | G/A/T | intron_variant | |
rs113298071 | benign, Idiopathic generalized epilepsy | 7,518,256(+) | C/A/G | coding_sequence_variant, missense_variant | |
rs113881725 | benign, Idiopathic generalized epilepsy | 7,518,399(+) | C/G/T | intron_variant |
Disorder | Aliases | PubMed IDs |
---|---|---|
benign epilepsy with centrotemporal spikes |
|
|
developmental coordination disorder |
|
|
spinocerebellar ataxia 2 |
|
|
atrial septal defect 1 |
|
|
wheat allergy |
|
|